Incidental Mutation 'IGL01918:Ap4m1'
ID179995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap4m1
Ensembl Gene ENSMUSG00000019518
Gene Nameadaptor-related protein complex AP-4, mu 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL01918
Quality Score
Status
Chromosome5
Chromosomal Location138172002-138180429 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138172844 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 69 (T69A)
Ref Sequence ENSEMBL: ENSMUSP00000123770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000139983] [ENSMUST00000143241] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000148879] [ENSMUST00000151318] [ENSMUST00000153867] [ENSMUST00000155902]
Predicted Effect probably benign
Transcript: ENSMUST00000000505
SMART Domains Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 1e-41 BLAST
MCM 145 642 N/A SMART
AAA 373 526 2.9e-4 SMART
Blast:MCM 658 719 1e-32 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000019662
AA Change: T69A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: T69A

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 142 2e-49 SMART
Pfam:Adap_comp_sub 173 449 2.5e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139223
Predicted Effect probably benign
Transcript: ENSMUST00000139983
SMART Domains Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 5.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142687
Predicted Effect probably damaging
Transcript: ENSMUST00000143241
AA Change: T69A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518
AA Change: T69A

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 86 2e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147920
Predicted Effect probably benign
Transcript: ENSMUST00000148094
SMART Domains Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 1 25 4e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148879
SMART Domains Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 6e-44 BLAST
MCM 145 389 1.77e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151318
AA Change: T83A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: T83A

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 47 153 3.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153867
SMART Domains Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 9.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155745
Predicted Effect probably benign
Transcript: ENSMUST00000155902
SMART Domains Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 5.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157031
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,447,674 Q71R probably benign Het
Ankfy1 T C 11: 72,740,455 V409A probably benign Het
B3gat2 A T 1: 23,845,128 K306* probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Calr A G 8: 84,842,850 probably benign Het
Ccdc54 C T 16: 50,590,852 W17* probably null Het
Cd68 T C 11: 69,665,101 S204G possibly damaging Het
Cep128 A T 12: 91,234,210 I342K probably damaging Het
Ces1d T A 8: 93,178,075 I346L probably benign Het
Cfap70 T A 14: 20,425,399 D418V possibly damaging Het
Cntnap4 A T 8: 112,752,234 R197S possibly damaging Het
Ddx31 G T 2: 28,874,164 V461F probably damaging Het
Eps15l1 T C 8: 72,367,912 M714V possibly damaging Het
Fshb A T 2: 107,058,927 F11I probably benign Het
Fsip2 T G 2: 82,992,138 C6072G possibly damaging Het
Fuz T G 7: 44,896,959 L93R probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm8991 G A 5: 16,730,680 noncoding transcript Het
Itga11 C A 9: 62,772,996 N973K probably benign Het
Lca5 T A 9: 83,423,148 T202S probably damaging Het
Lrp1 G A 10: 127,554,589 L3053F probably damaging Het
Mapk13 T C 17: 28,775,330 Y129H probably damaging Het
Mast1 T A 8: 84,921,209 H512L probably damaging Het
Mlip T C 9: 77,173,999 N213S probably damaging Het
Mtcl1 C T 17: 66,368,268 G734R possibly damaging Het
Myo9a T A 9: 59,779,702 I30N probably damaging Het
Olfr142 A G 2: 90,252,331 I219T probably damaging Het
Pctp T C 11: 89,987,336 D124G probably benign Het
Phc3 A G 3: 30,914,416 probably null Het
Plat T A 8: 22,780,437 F457I possibly damaging Het
Snw1 T C 12: 87,455,668 K319E probably benign Het
Sox8 A G 17: 25,570,137 L129P probably damaging Het
Stc1 A T 14: 69,031,654 probably benign Het
Szt2 A G 4: 118,384,253 probably benign Het
Tmem81 T A 1: 132,507,960 V168D probably damaging Het
Ttc41 C A 10: 86,713,190 Q83K probably damaging Het
Ugt1a5 T C 1: 88,166,545 V165A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b A G 7: 80,287,812 probably null Het
Zap70 T C 1: 36,778,787 Y290H possibly damaging Het
Other mutations in Ap4m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03087:Ap4m1 APN 5 138174804 missense probably benign 0.01
R0227:Ap4m1 UTSW 5 138176276 unclassified probably benign
R0394:Ap4m1 UTSW 5 138172203 missense probably benign 0.32
R0639:Ap4m1 UTSW 5 138176239 missense probably benign 0.01
R4226:Ap4m1 UTSW 5 138172817 nonsense probably null
R4357:Ap4m1 UTSW 5 138173049 missense probably damaging 1.00
R5544:Ap4m1 UTSW 5 138178370 missense probably benign 0.15
R5585:Ap4m1 UTSW 5 138172240 missense probably damaging 1.00
R5631:Ap4m1 UTSW 5 138174789 makesense probably null
R5691:Ap4m1 UTSW 5 138172391 missense probably damaging 1.00
R6504:Ap4m1 UTSW 5 138178096 missense probably benign
R6636:Ap4m1 UTSW 5 138172175 unclassified probably benign
R6637:Ap4m1 UTSW 5 138172175 unclassified probably benign
X0062:Ap4m1 UTSW 5 138178311 unclassified probably null
Posted On2014-05-07